title: Sequencing analysis of the ATOH7 gene in individuals with optic nerve hypoplasia.
abstract: BACKGROUND
  The Atonal Homolog 7 (ATOH7) gene has been implicated in association studies with optic nerve head diameter size. Hence, we screened optic nerve hypoplasia (ONH) patient DNA samples from Australia, France, and the United States for sequence variants in theATOH7 gene using Sanger sequencing.
  
  
  METHODS
  Sanger sequencing of theATOH7 gene was performed on 34 affected individual DNA samples. Sequencing was also carried out in three unaffected family members to confirm segregation of identified single nucleotide variations.
  
  
  RESULTS
  Seven sequence variations were identified in ATOH7. No disease-causing sequence changes in the ATOH7 gene was discovered in the ONH patient samples.
  
  
  CONCLUSIONS
  Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort.
authors.affiliation: The Center for Human Genetics, Duke University Medical Center , Durham, NC , USA.
authors.forename: Sing-Hui
authors.initials: SH
authors.lastname: Lim
authors.forename: Elizabeth
authors.initials: E
authors.lastname: St Germain
authors.forename: Khanh-Nhat
authors.initials: KN
authors.lastname: Tran-Viet
authors.forename: Sandra
authors.initials: S
authors.lastname: Staffieri
authors.forename: Meghan
authors.initials: M
authors.lastname: Marino
authors.forename: Pr Hélène
authors.initials: PH
authors.lastname: Dollfus
authors.forename: Erica B
authors.initials: EB
authors.lastname: Nading
authors.forename: Sue
authors.initials: S
authors.lastname: Crowe
authors.forename: Glen
authors.initials: G
authors.lastname: Gole
authors.forename: Yaumara
authors.initials: Y
authors.lastname: Perdomo-Trujillo
authors.forename: Michael
authors.initials: M
authors.lastname: Haybittel
authors.forename: James
authors.initials: J
authors.lastname: Elder
authors.forename: Valérie
authors.initials: V
authors.lastname: Pelletier
authors.forename: Elias
authors.initials: E
authors.lastname: Traboulsi
authors.forename: David
authors.initials: D
authors.lastname: Mackey
authors.forename: Terri L
authors.initials: TL
authors.lastname: Young
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; C456975:ATOH7 protein, human